EMILY (Rare Disease Day)

In honour of RARE DISEASE DAY 💜 I photographed a beautiful girl named EMILY and this is her story written by her mother Shona Thomson 💜💜💜 When Emily was born she seemed a perfectly healthy child initially, meeting most of her milestones but only slightly delayed physically. She had started talking at 6 months of age and had quite a few words by 8 months spoken so clearly, but was a bit more floppy than other babies. She was great at doing shape sorters etc too but by a year she lost all her skills and completely regressed. This was a tough time as she had long episodes of screaming during the day and we didnt really know what was causing it. She did however start crawling at aged 1 and then walking at aged 2. Emily ws diagnosed with Autism at aged 2. In doing some research about autism, I became aware of Rett Syndrome which I immediately thought fitted Emily better, as it mentioned cold hands and feet and many other symptoms that Emily was showing. My intuition just knew this is what she had. She was then diagnosed with Rett syndrome at aged 3 after a blood test. Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops. This disorder causes a progressive loss of motor skills and language. Rett syndrome primarily affects females. Most babies with Rett syndrome seem to develop as expected for the first six months of life. These babies then lose skills they previously had — such as the ability to crawl, walk, communicate or use their hands. Rett syndrome is a sporadic mutation, and is not passed down from the parents in most cases. Emily is very fortunate that she can walk and run unlike many others with this condition. She does have some scoliosis but is free from epilepsy which is also common in girls with this condition. She does however struggle massively with breath holding and hyperventilating spells which can interfere with a lot of things she is doing such as eating, walking and communication work. She has some use of her hands but has no fine motor control. She is also completely non verbal so it can be difficult for her to express herself. She is all in there however and has a great understanding of many things. She has been using eye gaze to communicate since she was 9, she is now 16. She also uses low tech ABC boards to spell out sentences, which she again uses her eyes to communicate a yes and no in order to do this. It is all in Emily’s eyes. She will look at me for yes and look away for no, or looks at yes and no symbols. Although Emily may not be able to speak, but she certainly has a lot to say! It may take some time and patience for her to be able to express her thoughts and feelings, but it is so worth it to get an insight into her mind! She is very headstrong and likes to push herself to achieve things. Things are often on her terms however. She can grab a lot but this is a way she communicates to say hello or to communicate when she’s needing something or tired etc. She bangs her hand when she wants more. She loves people and is a very sociable girl but can struggle with loud and busy environments also. She is a very loving and happy girl who is a joy to be around when she isn’t pulling your hair. She loves to cuddle which is so sweet, and has a fantastic sense of humour. she also loves books, horses and dogs, discos, music chocolate and balloons and being out in nature. 🖤 Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disabilities. Unusual hand movements, such as repetitive rubbing or clapping, replace purposeful hand use. Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication, treating seizures, and providing care and support for children and adults with Rett syndrome and their families. 🖤